What is it?
A rare genetic disease that causes weakness or numbness of the hands and feet. There are two kinds. Adult Refsum disease and infantile Refsum disease.
Symptoms:
Night Blindness
Deafness
Loss of sense of smell
Problems with balance and coordination
Dry and scaly skin
Heartbeat abnormalities
Sometimes individuals have shortened bones in their fingers or toes, or a visibly shortened fourth toe.
Causes:
Refsum disease is a peroxisomal disorder caused by the impaired alpha-oxidation of branched chain fatty acids resulting in buildup of phytanic acid and its derivatives in the plasma and tissues.
Treatments:
The main treatment is the restricting or avoiding of foods that contain phytanic acid. Including dairy products, beef and lamb, and fatty fish such as tuna, cod, and haddock. Some individuals may also require plasma exchange.
Refsum on a Molecular Level:
People with ARD disease lack the enzyme in peroxisomes that break down phytanic acida type of fat found in certain foods. As a result, toxic levels of phytanic acid build up in the brain, blood, and other tissues. Infantile Refsum Disease is a peroxisome biogenesis disorder resulting from deficiencies in the catabolism of very long chain fatty acids and branched chain fatty acids and plasmalogen biosynthesis.
What is it?
A rare genetic disease that causes weakness or numbness of the hands and feet. There are two kinds. Adult Refsum disease and infantile Refsum disease.
Symptoms:
Causes:
Refsum disease is a peroxisomal disorder caused by the impaired alpha-oxidation of branched chain fatty acids resulting in buildup of phytanic acid and its derivatives in the plasma and tissues.
Treatments:
The main treatment is the restricting or avoiding of foods that contain phytanic acid. Including dairy products, beef and lamb, and fatty fish such as tuna, cod, and haddock. Some individuals may also require plasma exchange.
Refsum on a Molecular Level:
People with ARD disease lack the enzyme in peroxisomes that break down phytanic acida type of fat found in certain foods. As a result, toxic levels of phytanic acid build up in the brain, blood, and other tissues. Infantile Refsum Disease is a peroxisome biogenesis disorder resulting from deficiencies in the catabolism of very long chain fatty acids and branched chain fatty acids and plasmalogen biosynthesis.
Works Cited:
http://qjmed.oxfordjournals.org/content/94/8/403.long
http://en.wikipedia.org/wiki/Refsum_disease#Cause
http://www.youtube.com/watch?v=nDgwSc0M8nQ